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Hereditary Central Nervous System Demyelinating Diseases (DOID:9008095)
Annotations: Rat: (42) Mouse: (42) Human: (43) Chinchilla: (42) Bonobo: (42) Dog: (43) Squirrel: (42)
Parent Terms Term With Siblings Child Terms
2-hydroxyglutaric aciduria +   
adrenoleukodystrophy +   
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia  
Adult-Onset Muscular Dystrophy with Leukoencephalopathy 
Alexander Disease  
Asparagine Synthetase Deficiency  
Balo concentric sclerosis 
Boylan Dew Greco Syndrome 
branched-chain keto acid dehydrogenase kinase deficiency  
CAMFAK Syndrome 
Canavan disease  
central pontine myelinolysis  
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy  
Cerebrocortical Degeneration of Infancy 
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
Cockayne syndrome +   
COL4A1-related familial vascular leukoencephalopathy  
Combined Oxidative Phosphorylation Deficiency 12  
Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 
creatine transporter deficiency  
CST3-related cerebral amyloid angiopathy +   
Cystic Leukoencephalopathy without Megalencephaly  
Demyelinating Autoimmune Diseases, CNS +   
Dystonia Musculorum Deformans +   
Encephalopathy, Spastic Tetraparesis, and Hypogonadism 
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy  
Familial Amyloid Polyneuropathies +   
familial encephalopathy with neuroserpin inclusion bodies  
galactosemia +   
Gerstmann-Straussler-Scheinker syndrome  
Gilles de la Tourette syndrome +   
glycine encephalopathy +   
Groll Hirschowitz Syndrome 
Hamano Tsukamoto Syndrome 
Hartnup disease  
Hereditary Central Nervous System Demyelinating Diseases +   
Inherited conditions characterized by a loss of MYELIN in the central nervous system.
Hereditary Optic Atrophies +   
hereditary sensory neuropathy +   
homocystinuria +   
Huntington's disease +   
Huntington's disease-like 2  
Huntington's Disease-Like Syndrome  
hyperlysinemia +   
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity  
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 
Kennedy's disease  
Lafora disease  
Leigh disease +   
Lesch-Nyhan syndrome +   
Lethal Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 1  
Leukoencephalopathy Brain Calcifications and Cysts  
Leukoencephalopathy with Ataxia  
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation  
Leukoencephalopathy with Dystonia and Motor Neuropathy  
Leukoencephalopathy with Metaphyseal Chondrodysplasia 
leukoencephalopathy with vanishing white matter  
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 
Lipodystrophy with Congenital Cataracts and Neurodegeneration  
Lysosomal Storage Diseases, Nervous System +   
maple syrup urine disease +   
Marchiafava-Bignami Disease 
MELAS syndrome +   
Menkes disease +   
Mental Retardation, X-Linked +   
MERRF Syndrome +   
mevalonic aciduria  
Microphthalmia and Mental Deficiency 
Microphthalmia, Syndromic 10 
mitochondrial DNA depletion syndrome 6  
motor peripheral neuropathy +   
myotonia congenita +   
myotonic dystrophy type 1 +   
neuroacanthocytosis +   
neurofibromatosis +   
neuronal ceroid lipofuscinosis +   
oculocerebrorenal syndrome +   
Ophthalmoplegic Migraine 
Opticocochleodentate Degeneration 
pantothenate kinase-associated neurodegeneration +   
PCWH syndrome  
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 
phenylketonuria +   
polyradiculoneuropathy +   
Posterior Leukoencephalopathy Syndrome  
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
primary cerebellar degeneration +   
Progressive Encephalopathy, Early-Onset, with Brain Edema and/or Leukoencephalopathy +   
Progressive Leukoencephalopathy, with Ovarian Failure  
progressive multifocal leukoencephalopathy 
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Refsum disease +   
Ribose 5-Phosphate Isomerase Deficiency  
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type  
Silengo Lerone Pelizza Syndrome 
spastic ataxia 3  
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Autosomal Dominant  
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Autosomal Dominant  
Spongiform Encephalopathy with Neuropsychiatric Features  
Subacute Combined Degeneration  
survival motor neuron spinal muscular atrophy +   
Telencephalic Leukoencephalopathy 
Tricarboxylic Acid Cycle, Defect of 
tuberous sclerosis +   
tyrosinemia +   
Unverricht-Lundborg syndrome  
urea cycle disorder +   
vascular dementia +   
Wilson disease +   
Zellweger syndrome +   

Exact Synonyms: leucodystrophy
Primary IDs: MESH:D020279 ;   RDO:0001595
Alternate IDs: OMIA:001130
Definition Sources: MESH:D020279

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.